Product Details

SNP ID

rs193042707

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:11847382 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCATTCGGCTCACTGAGCACTT[A/G]TGGGGGCACGACCTCATCTTCTAAA

Phenotype

MIM: 602726 MIM: 108780

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLCN6 PubMed Links

Gene Details

Gene

CLCN6

Gene Name

chloride voltage-gated channel 6

There are no transcripts associated with this gene.

Gene

NPPA

Gene Name

natriuretic peptide A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006172.3	280	Nonsense Mutation	CAA,TAA	Q61*	NP_006163.1

Gene

NPPA-AS1

Gene Name

NPPA antisense RNA 1

There are no transcripts associated with this gene.

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